Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a young woman from Guadeloupe developing severe megaloblastic anemia is reported. She presented with fever and hemolysis (she had heterozygotic beta-thalassemia) after a six month history of diarrhea. She was shown to have folate deficiency, steatorrhea, vitamin K and B12 malabsorption. She responded well to intravenous folinic acid and tetracyclines. Diagnosis was based on the following criteria: a) no other cause of malabsorption was found despite a comprehensive inquiry, b) the pattern of the illness corresponded to the definition of disease. Three particular aspects are outlined: the acute onset, malabsorption of vitamin B12 requiring prolonged and combined treatment, and the unusual place in which the disease was contracted.
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PMID:[Tropical sprue revealed by severe anemia in a woman from Guadeloupe]. 158 43

We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the beta zero-thalassemia (thal) allele IVS-I-1 (G----A), and heterozygous for an alpha-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.
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PMID:A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication. 187 22

Successful pregnancy outcome is described in a patient with hemoglobin E/beta(0)-thalassemia which is expressed as thalassemia major. A 21 year-old Laotian female complicated by severe anemia became pregnant. The diagnosis of hemoglobin E/beta (0)-thalassemia was made by hemoglobin analysis. The fetal weight estimated by abdominal echogram decreased during pregnancy. She received blood transfusions, in order to improve intrauterine growth retardation. Hemoglobin concentration was maintained at the level greater than 9 g/dl. Fetal growth was improved by the treatment. A normal full-term male infant was born by a caesarean section, and splenectomy was performed at the same time.
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PMID:[Successful pregnancy outcome in a patient with HbE/beta (0)-thalassemia]. 224 19

We describe a 3-year-old Pakistani girl who presented with recurrent urinary infections. She had a nonfunctioning hydronephrotic right kidney and hypertension. At operation a calculus was impacted in the right ureter with dilatation of the pelviocaliceal system. Nephrectomy was performed. Histology revealed end stage pyelonephritis. The calculus consisted of pure xanthine. Further investigations demonstrated low serum uric acid and absent urinary uric acid with increased excretion of xanthine. Eight months after nephrectomy blood pressure had decreased to normal. Her 5-year-old sister, who has beta-thalassemia, also has a low serum uric acid concentration and xanthinuria. The treatment of choice is to increase fluid intake so that the urine xanthine concentration remains below the level at which xanthine crystallizes. This may require adjustment of the urine pH.
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PMID:Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with beta-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other. 333 36

An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both beta(+)- and delta beta-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and beta (+)-thalassaemia from her mother and delta beta-thalassaemia from her father. She was healthy and never needed blood transfusions. The possible contribution of heterocellular HPFH to the less severe expression of the compound delta beta/beta(+)-thalassaemia heterozygosity is discussed. By DNA analysis the specific delta beta-thalassaemia defect on the gamma delta beta globin gene region has been established. In addition, a previously unreported association of a polymorphic restriction site haplotype with a beta (+)-thalassaemia mutation has been observed.
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PMID:Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects. 620 62

Heterozygous beta thalassaemia with microcytic anaemia (hemoglobin concentration 77 g/l) has been recognized in a 49 year-old woman of Alsatian extraction. A long history of microcytic anaemia had led to inadequate oral iron treatment before the patient was referred to us because of the persisting microcytic anaemia and iron loading. Indeed the patient also had haemosiderosis with a high transferrin saturation (73%) and markedly elevated ferritinaemia (1,114 micrograms/ml). Ferrokinetic data showed increased plasma iron turnover, early transfer of iron to the liver and evidence of ineffective erythropoiesis. She was treated with desferrioxamine (3 g every three days subcutaneously) and serum ferritin levels gradually decreased together with transferrin saturation. After 15 months serum ferritin and transferrin saturation were within the normal range. Several hypotheses are discussed to explain why this patient had haemosiderosis associated with heterozygous beta thalassaemia. The propositus was found to be HLA-A3, which is strongly associated with idiopathic haemochromatosis. Her sister also carries HLA-A3 with heterozygous beta thalassaemia but she has neither anaemia nor iron overload. Thus double heterozygotism is unlikely in our patient.
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PMID:[Iron overload in a beta thalassemia heterozygote of the intermediate type in a subject of Alsation origin. Results of iron chelation treatment]. 633 73

The relative excess of alpha- over beta-globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous beta-thalassemia. The clinical picture is usually characterized by a transfusion-dependent dyserythropoietic anemia (thalassemia major). However, some patients present with moderate anemia that does not require regular blood transfusions (thalassemia intermedia). The molecular heterogeneity of beta-thalassemia mutations and changes of alpha- and gamma-globin gene expression play an important role in modifying the clinical phenotype. We report here on a female Greek patient with homozygous beta-thalassemia but normal growth and development, excellent exercise tolerance, and no need of blood transfusions. She is thus mildly affected clinically, although there is marked pallor, jaundice, and hepatosplenomegaly. These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. beta-Globin genotyping shows here to be compound heterozygous for the codon 39 C-->T beta zero-nonsense mutation and for the T-->C beta(+)-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C-->T/IVS1-6 T-->C). alpha-Globin gene mapping demonstrates the presence of a 3.7-kb alpha (+)-thalassemia deletion on one allele (-alpha 3.7/alpha alpha). Taken together, this study identifies a complex interaction of genetic factors that do not significantly alter the clinical phenotype when present alone but ameliorate the course of homozygous beta-thalassemia when inherited in combination.
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PMID:Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. 843 22

Desferrioxamine is produced by a type of actinomycetes. It reacts with trivalent iron ions and forms a hydrosoluble complex called ferrioxamine B. This complex is able to remove iron from ferrous protein, but not from hemoglobin. This feature permits its use for the treatment of chronic iron accumulation such as that which occurs in thalassemia. Only two cases of successful desensitization to desferrioxamine hypersensitivity have been previously described. This paper describes a case of desensitization in a six-year-old girl with desferrioxamine hypersensitivity. She suffered from Cooley's disease and had received blood transfusions since the age of three months. From the age of four years, the patient was treated with desferrioxamine, which was interrupted after the occurrence of urticaria-angioedema. Skin and patch tests an in vitro lymphocyte transformation test were negative, indicating a pseudoallergic reaction. The desensitization treatment lasted twenty-one days and, afterwards, the patient was able to tolerate desferrioxamine therapy at the dose previously administered (400 mg/day, subcutaneously).
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PMID:Successful desensitization of a child with desferrioxamine hypersensitivity. 857 39

A 19-year-old girl with thalassemia intermedia presented with signs of thoracic spinal cord compression secondary to extramedullary hematopoiesis. She was started on a transfusion regimen to maintain a hemoglobin level of more than 12.5 g/dL. Clinical signs disappeared within the first week and circulating erythroblastemia was completely suppressed by the second week. Magnetic resonance imaging 4 weeks after diagnosis revealed near-complete resolution of the extradural mass, followed by gradual improvement in the posterior tibial somatosensory evoked potentials. Transfusion therapy may be diagnostically and therapeutically useful in spinal cord compression secondary to extramedullary hematopoiesis, obviating the need for surgery or radiotherapy.
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PMID:Hypertransfusion for spinal cord compression secondary to extramedullary hematopoiesis. 871 6

Our experience of beta-thalassemia during pregnancy is limited to 2 rare cases. The first patient suffered from beta(0)/beta(+) thalassemia, and therapy consisted of 300 ml of concentrated red cells every month and deferoxamine. During pregnancy the patient received 300 ml of concentrated red cells every week, and a healthy child was born by cesarean section. The second patient suffered from Cooley's disease till 1985. She received many transfusions but was allergic to deferoxamine. Later, bone marrow transplantation was successful. Her normal full-term pregnancy concluded with the birth of a healthy child.
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PMID:[Beta-thalassemia and pregnancy: 2 rare cases]. 873 20


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